Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. [electronic resource]
Producer: 20170406Description: 577-83 p. digitalISSN:- 1435-232X
- Adult
- Craniofacial Abnormalities -- diagnosis
- DNA Mutational Analysis
- Dwarfism -- diagnosis
- Dwarfism, Pituitary -- diagnosis
- Exome
- Female
- Haplotypes
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Joint Instability -- diagnosis
- Male
- Microsatellite Repeats
- Mutation
- Ossification, Heterotopic -- diagnosis
- Pentosyltransferases -- genetics
- Phenotype
- Poland
- Polydactyly -- diagnosis
- Pregnancy
- Prenatal Diagnosis
- Skeleton -- diagnostic imaging
- UDP Xylose-Protein Xylosyltransferase
No physical items for this record
Publication Type: Case Reports; Journal Article
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